Incidental Mutation 'R6978:Tmc1'
| ID |
542592 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmc1
|
| Ensembl Gene |
ENSMUSG00000024749 |
| Gene Name |
transmembrane channel-like gene family 1 |
| Synonyms |
Beethoven, Bth, 4933416G09Rik |
| MMRRC Submission |
045086-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.157)
|
| Stock # |
R6978 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
20760822-20931566 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 20781999 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 573
(N573S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040859
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039500]
|
| AlphaFold |
Q8R4P5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039500
AA Change: N573S
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000040859
Gene: ENSMUSG00000024749
AA Change: N573S
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1eq1a_
|
2 |
95 |
3e-3 |
SMART |
|
low complexity region
|
129 |
150 |
N/A |
INTRINSIC |
|
transmembrane domain
|
184 |
206 |
N/A |
INTRINSIC |
|
transmembrane domain
|
265 |
287 |
N/A |
INTRINSIC |
|
low complexity region
|
295 |
302 |
N/A |
INTRINSIC |
|
transmembrane domain
|
357 |
379 |
N/A |
INTRINSIC |
|
transmembrane domain
|
431 |
453 |
N/A |
INTRINSIC |
|
Pfam:TMC
|
512 |
627 |
2.6e-36 |
PFAM |
|
transmembrane domain
|
632 |
654 |
N/A |
INTRINSIC |
|
transmembrane domain
|
693 |
715 |
N/A |
INTRINSIC |
|
low complexity region
|
738 |
754 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.7443 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.5%
|
| Validation Efficiency |
96% (51/53) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is considered a member of a gene family predicted to encode transmembrane proteins. The specific function of this gene is unknown; however, it is known to be required for normal function of cochlear hair cells. Mutations in this gene have been associated with progressive postlingual hearing loss and profound prelingual deafness. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutant mice are characterized by progressive degeneration of the cochlear inner hair cells and concomitant deafness. Different alleles causing progressive deafness or profound congenital deafness. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adprh |
C |
T |
16: 38,266,171 (GRCm39) |
G324S |
probably damaging |
Het |
| Amfr |
T |
C |
8: 94,727,015 (GRCm39) |
E140G |
probably damaging |
Het |
| Anapc1 |
G |
T |
2: 128,511,820 (GRCm39) |
Q458K |
probably benign |
Het |
| Ap1g1 |
T |
C |
8: 110,554,968 (GRCm39) |
|
probably null |
Het |
| Arhgap45 |
G |
T |
10: 79,857,682 (GRCm39) |
V211F |
probably benign |
Het |
| Baz2b |
T |
C |
2: 59,738,059 (GRCm39) |
E1750G |
possibly damaging |
Het |
| Cmpk2 |
A |
T |
12: 26,527,018 (GRCm39) |
T336S |
probably damaging |
Het |
| Col6a3 |
C |
T |
1: 90,735,192 (GRCm39) |
|
probably null |
Het |
| Cyp2c29 |
T |
C |
19: 39,310,107 (GRCm39) |
L272P |
probably damaging |
Het |
| Cyp3a13 |
A |
T |
5: 137,903,801 (GRCm39) |
S286T |
probably benign |
Het |
| Cyp4f18 |
T |
G |
8: 72,756,340 (GRCm39) |
S79R |
probably benign |
Het |
| Dio1 |
T |
C |
4: 107,164,030 (GRCm39) |
T96A |
probably benign |
Het |
| Dnah7a |
T |
C |
1: 53,701,526 (GRCm39) |
I210V |
probably null |
Het |
| Epha4 |
A |
G |
1: 77,354,220 (GRCm39) |
Y841H |
probably damaging |
Het |
| Gm12695 |
T |
C |
4: 96,657,959 (GRCm39) |
D70G |
possibly damaging |
Het |
| Gtf3c1 |
G |
T |
7: 125,244,706 (GRCm39) |
T1680K |
possibly damaging |
Het |
| Hnrnpul2 |
T |
C |
19: 8,801,640 (GRCm39) |
V314A |
probably damaging |
Het |
| Irx3 |
G |
T |
8: 92,527,356 (GRCm39) |
P116Q |
probably damaging |
Het |
| Lrp4 |
C |
T |
2: 91,322,343 (GRCm39) |
R1060C |
probably damaging |
Het |
| Mark3 |
G |
A |
12: 111,593,582 (GRCm39) |
V205I |
probably benign |
Het |
| Mchr1 |
T |
C |
15: 81,121,997 (GRCm39) |
L249P |
possibly damaging |
Het |
| Med26 |
T |
C |
8: 73,250,427 (GRCm39) |
N224S |
possibly damaging |
Het |
| Megf9 |
C |
T |
4: 70,351,766 (GRCm39) |
V452I |
probably benign |
Het |
| Mki67 |
T |
C |
7: 135,303,691 (GRCm39) |
R726G |
probably benign |
Het |
| Mst1r |
T |
A |
9: 107,789,793 (GRCm39) |
L583Q |
probably benign |
Het |
| Mybpc1 |
A |
G |
10: 88,358,886 (GRCm39) |
C1102R |
probably damaging |
Het |
| Nr6a1 |
T |
C |
2: 38,762,631 (GRCm39) |
T55A |
probably benign |
Het |
| Nup210l |
G |
A |
3: 90,061,873 (GRCm39) |
R684Q |
possibly damaging |
Het |
| Or13a24 |
A |
C |
7: 140,154,200 (GRCm39) |
I45L |
probably damaging |
Het |
| Or4f7 |
T |
A |
2: 111,644,155 (GRCm39) |
L305F |
probably benign |
Het |
| Or6x1 |
C |
T |
9: 40,099,085 (GRCm39) |
R225W |
probably damaging |
Het |
| Pgbd1 |
A |
G |
13: 21,607,432 (GRCm39) |
L254P |
probably damaging |
Het |
| Pou6f2 |
A |
G |
13: 18,347,063 (GRCm39) |
F10L |
probably damaging |
Het |
| Ppfia3 |
T |
A |
7: 44,996,272 (GRCm39) |
T726S |
probably benign |
Het |
| Rab21 |
T |
A |
10: 115,134,766 (GRCm39) |
M118L |
possibly damaging |
Het |
| Rbm6 |
T |
C |
9: 107,729,774 (GRCm39) |
|
probably null |
Het |
| Rmc1 |
T |
C |
18: 12,318,804 (GRCm39) |
Y430H |
probably benign |
Het |
| Rpp38 |
A |
G |
2: 3,330,758 (GRCm39) |
L48P |
probably damaging |
Het |
| Sart3 |
A |
T |
5: 113,883,807 (GRCm39) |
I735N |
probably damaging |
Het |
| Slc44a1 |
T |
A |
4: 53,544,671 (GRCm39) |
Y461N |
probably damaging |
Het |
| Smok2b |
A |
T |
17: 13,455,295 (GRCm39) |
*485L |
probably null |
Het |
| Speer4a2 |
C |
A |
5: 26,291,454 (GRCm39) |
E117D |
probably damaging |
Het |
| Spink8 |
T |
C |
9: 109,649,725 (GRCm39) |
V69A |
probably benign |
Het |
| Spred2 |
G |
A |
11: 19,948,254 (GRCm39) |
R83Q |
possibly damaging |
Het |
| Tmem275 |
C |
T |
4: 115,755,560 (GRCm39) |
Q120* |
probably null |
Het |
| Tox4 |
G |
T |
14: 52,524,694 (GRCm39) |
|
probably null |
Het |
| Unc13c |
T |
C |
9: 73,839,259 (GRCm39) |
S531G |
probably benign |
Het |
| Vmn2r56 |
C |
T |
7: 12,449,333 (GRCm39) |
V302I |
probably benign |
Het |
| Ypel1 |
C |
T |
16: 16,902,438 (GRCm39) |
A110V |
probably benign |
Het |
| Zfp395 |
G |
A |
14: 65,623,882 (GRCm39) |
R117H |
probably benign |
Het |
| Zic5 |
T |
C |
14: 122,696,960 (GRCm39) |
T552A |
unknown |
Het |
| Zic5 |
CGACGAGTAG |
C |
14: 122,696,967 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Tmc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01639:Tmc1
|
APN |
19 |
20,793,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02104:Tmc1
|
APN |
19 |
20,809,818 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02245:Tmc1
|
APN |
19 |
20,776,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02544:Tmc1
|
APN |
19 |
20,884,327 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02699:Tmc1
|
APN |
19 |
20,809,714 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02974:Tmc1
|
APN |
19 |
20,878,208 (GRCm39) |
missense |
probably benign |
|
|
IGL03194:Tmc1
|
APN |
19 |
20,782,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
dinner_bell
|
UTSW |
19 |
20,772,880 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0255:Tmc1
|
UTSW |
19 |
20,766,951 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0381:Tmc1
|
UTSW |
19 |
20,776,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0655:Tmc1
|
UTSW |
19 |
20,776,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1404:Tmc1
|
UTSW |
19 |
20,793,548 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1404:Tmc1
|
UTSW |
19 |
20,793,548 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1496:Tmc1
|
UTSW |
19 |
20,845,719 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1542:Tmc1
|
UTSW |
19 |
20,793,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1773:Tmc1
|
UTSW |
19 |
20,803,865 (GRCm39) |
splice site |
probably null |
|
|
R1777:Tmc1
|
UTSW |
19 |
20,793,473 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2067:Tmc1
|
UTSW |
19 |
20,801,673 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R2152:Tmc1
|
UTSW |
19 |
20,834,039 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2180:Tmc1
|
UTSW |
19 |
20,801,448 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2204:Tmc1
|
UTSW |
19 |
20,918,269 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2205:Tmc1
|
UTSW |
19 |
20,918,269 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2285:Tmc1
|
UTSW |
19 |
20,767,163 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4505:Tmc1
|
UTSW |
19 |
20,845,738 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4752:Tmc1
|
UTSW |
19 |
20,804,013 (GRCm39) |
missense |
probably benign |
0.35 |
|
R4975:Tmc1
|
UTSW |
19 |
20,884,319 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5040:Tmc1
|
UTSW |
19 |
20,801,394 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R5206:Tmc1
|
UTSW |
19 |
20,804,024 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5400:Tmc1
|
UTSW |
19 |
20,781,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5429:Tmc1
|
UTSW |
19 |
20,766,986 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R6200:Tmc1
|
UTSW |
19 |
20,766,954 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6784:Tmc1
|
UTSW |
19 |
20,805,015 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6796:Tmc1
|
UTSW |
19 |
20,776,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6808:Tmc1
|
UTSW |
19 |
20,772,880 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6812:Tmc1
|
UTSW |
19 |
20,878,225 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6834:Tmc1
|
UTSW |
19 |
20,772,974 (GRCm39) |
nonsense |
probably null |
|
|
R6986:Tmc1
|
UTSW |
19 |
20,801,647 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7027:Tmc1
|
UTSW |
19 |
20,918,267 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7378:Tmc1
|
UTSW |
19 |
20,845,753 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7520:Tmc1
|
UTSW |
19 |
20,776,542 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7573:Tmc1
|
UTSW |
19 |
20,884,372 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7825:Tmc1
|
UTSW |
19 |
20,782,009 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R8024:Tmc1
|
UTSW |
19 |
20,878,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8073:Tmc1
|
UTSW |
19 |
20,845,725 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8786:Tmc1
|
UTSW |
19 |
20,803,953 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8791:Tmc1
|
UTSW |
19 |
20,767,209 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8969:Tmc1
|
UTSW |
19 |
20,793,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8973:Tmc1
|
UTSW |
19 |
20,878,215 (GRCm39) |
missense |
probably benign |
|
|
R9429:Tmc1
|
UTSW |
19 |
20,793,548 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R9493:Tmc1
|
UTSW |
19 |
20,801,644 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1176:Tmc1
|
UTSW |
19 |
20,803,870 (GRCm39) |
missense |
probably null |
1.00 |
|
Z1177:Tmc1
|
UTSW |
19 |
20,801,346 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Tmc1
|
UTSW |
19 |
20,772,972 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCATACCATCTATCGGTACCTCAG -3'
(R):5'- TTTACCAGCTCCGTGACTGG -3'
Sequencing Primer
(F):5'- TCGGTACCTCAGAAAATAAAGAACTG -3'
(R):5'- CCGTGACTGGCTTCTAACATGAG -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation